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Moebius syndrome

ORPHA:570 · Disease · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(9)

  • Abnormality of the voiceHP:0001608
  • Cranial nerve paralysisHP:0006824
  • Facial palsyHP:0010628
  • Feeding difficulties in infancyHP:0008872
  • Mask-like faciesHP:0000298
  • Open mouthHP:0000194
  • OphthalmoplegiaHP:0000602
  • PtosisHP:0000508
  • StrabismusHP:0000486

Frequent (79-30%)(8)

  • Aplasia of the pectoralis major muscleHP:0009751
  • BrachydactylyHP:0001156
  • Corneal opacityHP:0007957
  • DysphagiaHP:0002015
  • Everted lower lip vermilionHP:0000232
  • HypotoniaHP:0001252
  • Motor delayHP:0001270
  • Talipes equinovarusHP:0001762

Occasional (29-5%)(25)

  • Abnormal morphology of ulnaHP:0040071
  • Abnormality of the sense of smellHP:0004408
  • Absent handHP:0004050
  • Aplasia/Hypoplasia involving the metacarpal bonesHP:0005914
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Aplasia/Hypoplasia of the tongueHP:0010295
  • Arthrogryposis multiplex congenitaHP:0002804
  • AutismHP:0000717
  • BlepharitisHP:0000498
  • Breast aplasiaHP:0100783
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • Death in infancyHP:0001522
  • EpicanthusHP:0000286
  • Finger syndactylyHP:0006101
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • Hypogonadotropic hypogonadismHP:0000044
  • MicrodontiaHP:0000691
  • MicrognathiaHP:0000347
  • Multiple cafe-au-lait spotsHP:0007565
  • Skeletal muscle atrophyHP:0003202
  • Tooth agenesisHP:0009804
  • Visual impairmentHP:0000505